Pseudohypoparathyroidism

A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.

Also Known As:

Albright Hereditary Osteodystrophy with Multiple Hormone Resistance; PHD Ib; PHD1b; PHP Ia; Pseudohypoparathyroidism Type 1B; Pseudohypoparathyroidism, Type Ia; Pseudohypoparathyroidism, Type Ib; Hereditary Osteodystrophy, Albright; Osteodystrophy, Albright Hereditary; Pseudohypoparathyroidism Type 1Bs; Pseudohypoparathyroidisms; Pseudohypoparathyroidisms, Type Ia; Pseudohypoparathyroidisms, Type Ib; Type Ia Pseudohypoparathyroidism; Type Ia Pseudohypoparathyroidisms; Type Ib Pseudohypoparathyroidism; Type Ib Pseudohypoparathyroidisms; Albright Hereditary Osteodystrophy; PHPIa

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Metabolic Bone Diseases: 6245
    - Pseudohypoparathyroidism: 756
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - Pseudohypoparathyroidism: 756
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Metabolic Bone Diseases: 6245
    - Pseudohypoparathyroidism: 756
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - Pseudohypoparathyroidism: 756
  - Calcium Metabolism Disorders: 47
    - Pseudohypoparathyroidism: 756

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